674 related articles for article (PubMed ID: 18853456)
21. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.
Spena S; Duga S; Asselta R; Malcovati M; Peyvandi F; Tenchini ML
Blood; 2002 Dec; 100(13):4478-84. PubMed ID: 12393540
[TBL] [Abstract][Full Text] [Related]
22. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
23. Correction of aberrant pre-mRNA splicing by antisense oligonucleotides in beta-thalassemia Egyptian patients with IVSI-110 mutation.
El-Beshlawy A; Mostafa A; Youssry I; Gabr H; Mansour IM; El-Tablawy M; Aziz M; Hussein IR
J Pediatr Hematol Oncol; 2008 Apr; 30(4):281-4. PubMed ID: 18391696
[TBL] [Abstract][Full Text] [Related]
24. Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.
Kollberg G; Holme E
Neuromuscul Disord; 2009 Dec; 19(12):833-6. PubMed ID: 19846308
[TBL] [Abstract][Full Text] [Related]
25. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
Rodríguez-Pascau L; Coll MJ; Vilageliu L; Grinberg D
Hum Mutat; 2009 Nov; 30(11):E993-E1001. PubMed ID: 19718781
[TBL] [Abstract][Full Text] [Related]
26. N34S mutation in the SPINK1 gene is not associated with alternative splicing.
Masamune A; Kume K; Takagi Y; Kikuta K; Satoh K; Satoh A; Shimosegawa T
Pancreas; 2007 May; 34(4):423-8. PubMed ID: 17446841
[TBL] [Abstract][Full Text] [Related]
27. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX; Cartegni L; Zhang MQ; Krainer AR
Nat Genet; 2001 Jan; 27(1):55-8. PubMed ID: 11137998
[TBL] [Abstract][Full Text] [Related]
28. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.
Olsson A; Lind L; Thornell LE; Holmberg M
Hum Mol Genet; 2008 Jun; 17(11):1666-72. PubMed ID: 18296749
[TBL] [Abstract][Full Text] [Related]
29. In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A>G causing abnormal RNA splicing.
Terasawa F; Kamijyo Y; Fujihara N; Yamauchi K; Kumagai T; Honda T; Shigematsu S; Okumura N
Clin Chim Acta; 2010 Sep; 411(17-18):1325-9. PubMed ID: 20580695
[TBL] [Abstract][Full Text] [Related]
30. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.
Asselta R; Duga S; Simonic T; Malcovati M; Santagostino E; Giangrande PL; Mannucci PM; Tenchini ML
Blood; 2000 Oct; 96(7):2496-500. PubMed ID: 11001902
[TBL] [Abstract][Full Text] [Related]
31. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
[TBL] [Abstract][Full Text] [Related]
32. A novel RNA splicing mutation in Japanese patients with Wilson disease.
Shimizu N; Kawase C; Nakazono H; Hemmi H; Shimatake H; Aoki T
Biochem Biophys Res Commun; 1995 Dec; 217(1):16-20. PubMed ID: 8526905
[TBL] [Abstract][Full Text] [Related]
33. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.
Blázquez L; Aiastui A; Goicoechea M; Martins de Araujo M; Avril A; Beley C; García L; Valcárcel J; Fortes P; López de Munain A
Hum Mutat; 2013 Oct; 34(10):1387-95. PubMed ID: 23864287
[TBL] [Abstract][Full Text] [Related]
34. Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon.
Spena S; Tenchini ML; Buratti E
RNA; 2006 Jun; 12(6):948-58. PubMed ID: 16611940
[TBL] [Abstract][Full Text] [Related]
35. Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
Meili D; Kralovicova J; Zagalak J; Bonafé L; Fiori L; Blau N; Thöny B; Vorechovsky I
Hum Mutat; 2009 May; 30(5):823-31. PubMed ID: 19280650
[TBL] [Abstract][Full Text] [Related]
36. Phosphorylation status of the Kep1 protein alters its affinity for its protein binding partner alternative splicing factor ASF/SF2.
Robard C; Daviau A; Di Fruscio M
Biochem J; 2006 Nov; 400(1):91-7. PubMed ID: 16834570
[TBL] [Abstract][Full Text] [Related]
37. Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers.
Hong DH; Li T
Invest Ophthalmol Vis Sci; 2002 Nov; 43(11):3373-82. PubMed ID: 12407146
[TBL] [Abstract][Full Text] [Related]
38. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
Vu D; Di Sanza C; Caille D; de Moerloose P; Scheib H; Meda P; Neerman-Arbez M
Hum Mol Genet; 2005 Nov; 14(21):3271-80. PubMed ID: 16195396
[TBL] [Abstract][Full Text] [Related]
39. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
Vetrini F; Tammaro R; Bondanza S; Surace EM; Auricchio A; De Luca M; Ballabio A; Marigo V
Hum Mutat; 2006 May; 27(5):420-6. PubMed ID: 16550551
[TBL] [Abstract][Full Text] [Related]
40. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]